nsv6624400
- Organism: Homo sapiens
- Study:nstd224 (Zarrei et al. 2023)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:23,940
- Publication(s):Zarrei et al. 2023
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 322 SVs from 33 studies. See in: genome view
Overlapping variant regions from other studies: 322 SVs from 33 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv6624400 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000018.10 | Chr18 | 4,967,807 | 4,991,746 |
| nsv6624400 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000018.9 | Chr18 | 4,967,806 | 4,991,745 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv18309466 | deletion | OSC0739 | SNP array | Probe signal intensity | nssv18309459, nssv18309469, nssv18309144 |
| nssv18324806 | deletion | OSC1825 | SNP array | Probe signal intensity | 6 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18309466 | Remapped | Perfect | NC_000018.10:g.(?_ 4967807)_(4991746_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,967,807 | 4,991,746 |
| nssv18324806 | Remapped | Perfect | NC_000018.10:g.(?_ 4967807)_(4991746_ ?)del | GRCh38.p12 | First Pass | NC_000018.10 | Chr18 | 4,967,807 | 4,991,746 |
| nssv18309466 | Submitted genomic | NC_000018.9:g.(?_4 967806)_(4991745_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,967,806 | 4,991,745 | ||
| nssv18324806 | Submitted genomic | NC_000018.9:g.(?_4 967806)_(4991745_? )del | GRCh37 (hg19) | NC_000018.9 | Chr18 | 4,967,806 | 4,991,745 |